title: Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13.
abstract: Ten complementation groups of generalized peroxisome biogenesis disorders (PBD), (excluding rhizomelic chondrodysplasia punctata) have been identified using complementation analysis. Four of the genes involved have been identified using two different methods of (1) genetic functional complementation of peroxisome deficient CHO cell mutants and (2) homology searches for human dbEST, based on yeast genes involved in peroxisome biogenesis (PEX genes). We report here the first identification of a new complementation group which is genetically different from peroxisome deficient CHO mutants. There were no complementations by the human PEX 13 gene. The nature of the related gene is being investigated.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan. nshim@cc.gifu-u.ac.jp
authors.forename: N
authors.initials: N
authors.lastname: Shimozawa
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: Z
authors.initials: Z
authors.lastname: Zhang
authors.forename: A
authors.initials: A
authors.lastname: Imamura
authors.forename: T
authors.initials: T
authors.lastname: Tsukamoto
authors.forename: T
authors.initials: T
authors.lastname: Osumi
authors.forename: K
authors.initials: K
authors.lastname: Tateishi
authors.forename: K
authors.initials: K
authors.lastname: Okumoto
authors.forename: Y
authors.initials: Y
authors.lastname: Fujiki
authors.forename: T
authors.initials: T
authors.lastname: Orii
authors.forename: P G
authors.initials: PG
authors.lastname: Barth
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: N
authors.initials: N
authors.lastname: Kondo
mesh_terms: D000818:Animals; D016466:CHO Cells; D002374:Catalase / Q000276:immunology; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D006224:Cricetinae; D018076:DNA, Complementary / Q000235:genetics; D005347:Fibroblasts; D005455:Fluorescent Antibody Technique; D005816:Genetic Complementation Test; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D018901:Peroxisomal Disorders / Q000235:genetics*; D010641:Phenotype; D014162:Transfection / Q000235:genetics
chemical_list: D018076:DNA, Complementary; D008565:Membrane Proteins; C101884:PEX13 protein, human; D002374:Catalase